Cargando…
A synthetic-diploid benchmark for accurate variant calling evaluation
Constructed from the consensus of short-read variant callers, existing benchmark datasets for evaluating variant calling accuracy are biased toward easy regions accessible by known algorithms. We derived a new benchmark dataset from the de novo PacBio assemblies of two human cell lines that are homo...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2018
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341484/ https://www.ncbi.nlm.nih.gov/pubmed/30013044 http://dx.doi.org/10.1038/s41592-018-0054-7 |